Muscular dystrophies vary in presentation and severity, but are associated with profound disability in many people. Although characterised by muscle weakness and wasting, there is also a very high prevalence of sleep problems and disorders which have significant impacts on quality of life in these individuals. There are no curative therapies for muscular dystrophies, with the only options for patients being supportive therapies to aid with symptoms. Therefore, there is an urgent need for new therapeutic targets and a greater understanding of pathogenesis. Inflammation and altered immunity are factors which have prominent roles in some muscular dystrophies and emerging roles in others such as type 1 myotonic dystrophy, signifying a link to pathogenesis. Interestingly, there is also a strong link between inflammation/immunity and sleep. In this review, we will explore this link in the context of muscular dystrophies and how it may influence potential therapeutic targets and interventions.
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http://dx.doi.org/10.1016/j.neubiorev.2023.105116 | DOI Listing |
J Cachexia Sarcopenia Muscle
February 2025
Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Canada.
Background: Duchenne muscular dystrophy (DMD) is a devastating disease characterized by progressive muscle wasting that leads to diminished lifespan. In addition to the inherent weakness of dystrophin-deficient muscle, the dysfunction of resident muscle stem cells (MuSC) significantly contributes to disease progression.
Methods: Using the mdx mouse model of DMD, we performed an in-depth characterization of disease progression and MuSC function in dystrophin-deficient skeletal muscle using immunohistology, isometric force measurements, transcriptomic analysis and transplantation assays.
J Int Med Res
December 2024
Department of Pediatrics, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabi.
Objective: Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the gene. This study examined the efficacy and safety of ataluren, the first oral treatment for DMD with nonsense mutations (nmDMD), in patients in the Middle East.
Methods: This retrospective longitudinal study assessed the outcomes of seven boys with nmDMD who received treatment with ataluren and follow-up at a single center since 2016.
Vopr Kurortol Fizioter Lech Fiz Kult
December 2024
Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russia.
Unlabelled: Dystrophinopathies - a group of hereditary X-linked neuromuscular diseases characterized by worsening fibrofatty degeneration of skeletal muscles, muscular weakness, low exercise tolerance, as well as orthopedic, cardiovascular and respiratory complications. Study of the effectiveness of physical medical rehabilitation in patients with neuromuscular diseases, evaluation of the influence of external and internal factors on functional capabilities and effectiveness of the conducted rehabilitation are highly relevant.
Objective: To evaluate the effectiveness of physical medical rehabilitation of patients with dystrophinopathies at the outpatient stages of the disease's course and the influence of anthropometric characteristics and functional status of patients' motor capabilities.
J Gen Physiol
March 2025
University Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5261, INSERM U-1315, Institut NeuroMyoGène - Pathophysiology and Genetics of Neuron and Muscle , Lyon, France.
The potential pathogenic role of disturbed Ca2+ homeostasis in Duchenne muscular dystrophy (DMD) remains a complex, unsettled issue. We used muscle fibers isolated from 3-mo-old DMDmdx rats to further investigate the case. Most DMDmdx fibers exhibited no sign of trophic or morphology distinction as compared with WT fibers and mitochondria and t-tubule membrane networks also showed no stringent discrepancy.
View Article and Find Full Text PDFAdv Healthc Mater
December 2024
Evolved.Bio, 280 Joseph Street, Kitchener, Ontario, N2G4Z5, Canada.
Progress in understanding the underlying mechanisms of muscular dystrophies is hindered by the lack of pathophysiologically relevant in vitro models. Here, an entirely scaffold-free anchored cell sheet engineering platform is used to create patient-specific three-dimensional (3D) skeletal muscle in vitro models. This approach effectively replicates mature muscle phenotypes and tissue- and disease-specific extracellular matric (ECM).
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